NCT03603171

Brief Summary

A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jul 2018

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2018

Completed
16 days until next milestone

First Submitted

Initial submission to the registry

July 17, 2018

Completed
10 days until next milestone

First Posted

Study publicly available on registry

July 27, 2018

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2019

Completed
1 month until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2020

Completed
Last Updated

February 20, 2020

Status Verified

February 1, 2020

Enrollment Period

1.5 years

First QC Date

July 17, 2018

Last Update Submit

February 19, 2020

Conditions

Myotonic Dystrophy Type 2

Keywords

myotonic dystrophy type 2outcome scalemuscle strengthoutcome measuresdisease specific severity scale

Outcome Measures

Primary Outcomes (2)

  • Quick motor function test (QMFT)

    A test for assessing motor function.

    6 months

  • DM1-ActivC

    A Rasch-built DM1 activity and participation scale for clinical use

    6 months

Secondary Outcomes (17)

  • R-PAct

    6 months

  • Beck depression inventory (BDI-II)

    6 months

  • McGill pain questionnaire (MPQ-sf)

    6 months

  • Brief Pain Inventory Short-Form (BPI-sf)

    6 months

  • Fatigue and Daytime Sleepiness Scale (FDSS)

    6 months

  • +12 more secondary outcomes

Other Outcomes (1)

  • MIRS-2

    10 months

Study Arms (2)

DM2 group

Patients with Myotonic Dystrophy type 2 genetically confirmed, without limitation regarding age or disease onset.

Diagnostic Test: DM1-ActivCDiagnostic Test: R-PActDiagnostic Test: Beck depression inventoryDiagnostic Test: McGill pain questionnaireDiagnostic Test: Brief Pain Inventory Short-FormDiagnostic Test: Fatigue and Daytime Sleepiness ScaleDiagnostic Test: Myotonia Behaviour scaleDiagnostic Test: Hand opening timeDiagnostic Test: Pressure pain thresholdDiagnostic Test: Manual muscle testingDiagnostic Test: Quantitative muscle testingDiagnostic Test: Scale for Assessment and Rating of AtaxiaDiagnostic Test: Berg balance scaleDiagnostic Test: Quick motor function testDiagnostic Test: GSGCDiagnostic Test: 30 seconds sit to stand testDiagnostic Test: Functional Index-2Diagnostic Test: Six minute walking testDiagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)

Healthy controls group

A group of gender and age-matched healthy controls.

Diagnostic Test: DM1-ActivCDiagnostic Test: R-PActDiagnostic Test: Beck depression inventoryDiagnostic Test: McGill pain questionnaireDiagnostic Test: Brief Pain Inventory Short-FormDiagnostic Test: Fatigue and Daytime Sleepiness ScaleDiagnostic Test: Myotonia Behaviour scaleDiagnostic Test: Hand opening timeDiagnostic Test: Pressure pain thresholdDiagnostic Test: Manual muscle testingDiagnostic Test: Quantitative muscle testingDiagnostic Test: Scale for Assessment and Rating of AtaxiaDiagnostic Test: Berg balance scaleDiagnostic Test: Quick motor function testDiagnostic Test: GSGCDiagnostic Test: 30 seconds sit to stand testDiagnostic Test: Functional Index-2Diagnostic Test: Six minute walking testDiagnostic Test: Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)

Interventions

DM1-ActivCDIAGNOSTIC_TEST

A Rasch-built activity and participation scale for clinical use in myotonic dystrophy type 1 (DM1)

DM2 groupHealthy controls group
R-PActDIAGNOSTIC_TEST

A Rasch-built Pompe-specific activity scale.

DM2 groupHealthy controls group
Beck depression inventoryDIAGNOSTIC_TEST

A self-reported depression inventory administered verbally or self administered.

Also known as: BDI-II
DM2 groupHealthy controls group
McGill pain questionnaireDIAGNOSTIC_TEST

The short form of the MPQ, used to evaluate the qualitative aspect of pain and categorized in three dimensions of pain experience: sensory qualities, affective qualities and overall intensity.

Also known as: MPQ-sf
DM2 groupHealthy controls group
Brief Pain Inventory Short-FormDIAGNOSTIC_TEST

A 9 item self-administered questionnaire used to evaluate the severity of a patient's pain and the impact of this pain on the patient's daily functioning

Also known as: BPI-sf
DM2 groupHealthy controls group
Fatigue and Daytime Sleepiness ScaleDIAGNOSTIC_TEST

A Rasch-built combined fatigue and daytime sleepiness scale (FDSS) specifically designed for patients with DM1.

Also known as: FDSS
DM2 groupHealthy controls group
Myotonia Behaviour scaleDIAGNOSTIC_TEST

It consists of six framed sentences, which most closely describe the impact of the stiffness on everyday life

Also known as: MBS
DM2 groupHealthy controls group
Hand opening timeDIAGNOSTIC_TEST

A simple test to evaluate clinical myotonia: the patient makes a tight fist for 5 seconds, then rapidly open them and the opening time is measured.

DM2 groupHealthy controls group
Pressure pain thresholdDIAGNOSTIC_TEST

Thresholds for pressure pain were obtained over eight muscles on the left and right side of the body: extensor digitorum communis, deltoid, quadriceps and anterior tibialis. The average value of two measurements will be recorded.

Also known as: PPT
DM2 groupHealthy controls group
Manual muscle testingDIAGNOSTIC_TEST

The patient is instructed to hold the corresponding limb or appropriate body part to be tested at the end of its available range while the practitioner provides opposing manual resistance. The strength is measured by the modified-MRC scale. The average value of two mesurements is considered. The following muscles were assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and Extensors, digit flexors and extensors and thumb abductors.

Also known as: MMT
DM2 groupHealthy controls group
Quantitative muscle testingDIAGNOSTIC_TEST

Strength testing using sophisticated strength measuring devices during an isometric contraction. The average value of two measurements is considered; in case of difference \> 10% between measurements, a third attempt is performed. The following muscles are assessed: neck flexors and extensors, hip flexors and extensors, knee flexors and extensors, shoulder abductors, elbow flexors and extensors, ankle dorsiflexors and plantar flexors, wrist flexors and extensors and digit flexors.

Also known as: QMT
DM2 groupHealthy controls group
Scale for Assessment and Rating of AtaxiaDIAGNOSTIC_TEST

SARA is a clinical scale which assesses a range of different impairments in cerebellar ataxia.

Also known as: SARA
DM2 groupHealthy controls group
Berg balance scaleDIAGNOSTIC_TEST

It is a 14 item objective measure designed to assess static balance and fall risk in adult populations

Also known as: BBS
DM2 groupHealthy controls group
Quick motor function testDIAGNOSTIC_TEST

Assessment of proximal motor function.

Also known as: QMFT
DM2 groupHealthy controls group
GSGCDIAGNOSTIC_TEST

GSGC score provides a detailed picture of motor function by including quantitative measures of four main motor performances (Gait, Walking, Stair, Gower's) and a qualitative global assessment of the manner to accomplish them.

DM2 groupHealthy controls group
30 seconds sit to stand testDIAGNOSTIC_TEST

It is a measurement that assesses functional lower extremity strenght in older adults.

Also known as: 30CST
DM2 groupHealthy controls group
Functional Index-2DIAGNOSTIC_TEST

Disease-specific functional outcome assessing muscle endurance. In this trial, only the part of the test for the upper extremities is used.

Also known as: FI-2
DM2 groupHealthy controls group
Six minute walking testDIAGNOSTIC_TEST

It is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity.

Also known as: 6MWT
DM2 groupHealthy controls group
Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)DIAGNOSTIC_TEST

A subscale derived from the Individualised Neuromuscular Quality of Life Questionnaire (INQoL). 3 questions reguarding stiffness/myotonia.

Also known as: InQoL
DM2 groupHealthy controls group

Eligibility Criteria

Age18 Years - 90 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Myotonic Dystrophy type 2, without limitations regarding age of onset, disease duration or physical impairment related to the disease.

You may qualify if:

  • Genetically confirmed myotonic dystrophy type 2
  • Able to provide informed consent

You may not qualify if:

  • Invalidating diseases not related with DM2 (e.g. Stroke).
  • Subject participating in another clinical trial (other than registries) concurrently or within 30 days prior to screening for entry into this study.
  • Unable to complete study questionnaires.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Munich, Bavaria, 80336, Germany

Location

Related Publications (5)

  • Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

    PMID: 29934199BACKGROUND

  • Wenninger S, Montagnese F, Schoser B. Core Clinical Phenotypes in Myotonic Dystrophies. Front Neurol. 2018 May 2;9:303. doi: 10.3389/fneur.2018.00303. eCollection 2018.

    PMID: 29770119BACKGROUND

  • Wood L, Bassez G, van Engelen B, Lochmuller H, Schoser B; 222nd ENMC workshop participants. 222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.

    PMID: 29550152BACKGROUND

  • Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B. Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol. 2017 Dec;264(12):2472-2480. doi: 10.1007/s00415-017-8653-2. Epub 2017 Oct 30.

    PMID: 29086017BACKGROUND

  • Montagnese F, Rastelli E, Khizanishvili N, Massa R, Stahl K, Schoser B. Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2. Front Neurol. 2020 Apr 21;11:306. doi: 10.3389/fneur.2020.00306. eCollection 2020.

    PMID: 32373059DERIVED

MeSH Terms

Conditions

Myotonic Dystrophy

Interventions

Pain MeasurementPhysical Examination

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesMyotonic DisordersHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Neurologic ExaminationDiagnostic Techniques and ProceduresDiagnosis

Study Officials

  • Benedikt Schoser, MD

    Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Neurologist, senior physician

Study Record Dates

First Submitted

July 17, 2018

First Posted

July 27, 2018

Study Start

July 1, 2018

Primary Completion

December 31, 2019

Study Completion

February 1, 2020

Last Updated

February 20, 2020

Record last verified: 2020-02

Locations

DE(1)